Reports |
substitution |
cSNPs | 2 |
Insertion | 21 |
Deletion | 25 |
SNPs |
+1kb
150594608(c.-172A>G),
150594621(c.-185G>A),
150594642(c.-206G>C),
150594893(c.-457A>G),
150594916(c.-480T>G),
150595026(c.-590T>C),
150595046(c.-610C>G),
150595394(c.-958G>C),
150595696(c.-1260C>A),
150595714(c.-1278G>A),
150595741(c.-1305A>G),
150595752(c.-1316G>A),
150595913(c.-1477C>A),
150596129(c.-1693C>T),
150596175(c.-1739A>G),
150596605(c.-2169T>C),
150596606(c.-2170T>C),
150596688(c.-2252A>G),
150596690(c.-2254G>A),
150596697(c.-2261T>C),
150596929(c.-2493C>T),
150596984(c.-2548G>A),
150596998(c.-2562G>A),
150597244(c.-2808G>C),
150597317(c.-2881T>C),
150597325(c.-2889T>C),
150597338(c.-2902A>T),
150597391(c.-2955T>C),
150597561(c.-3125T>C),
150597633(c.-3197G>A),
150597686(c.-3250A>G),
150597742(c.-3306A>C),
150597909(c.-3473T>C),
150597936(c.-3500A>T),
150597991(c.-3555G>A),
150598019(c.-3583G>A),
150598067(c.-3631T>C),
150598102(c.-3666G>T),
150598110(c.-3674C>T),
150598152(c.-3716G>C),
150598159(c.-3723C>T),
150598235(c.-3799T>C),
150598288(c.-3852A>G),
150598309(c.-3873G>C),
150598401(c.-3965C>G),
150598425(c.-3989G>C),
150598465(c.-4029T>C),
150598835(c.-4399A>G),
150599156(c.-4720A>G),
150599161(c.-4725C>T),
150599190(c.-4754G>A),
150599193(c.-4757A>C),
150599254(c.-4818T>C),
150599436(c.-5000T>C),
5'UTR
CDS
3'UTR
INTRON
150573146(c.468-154G>C),
150573147(c.468-155T>C),
150573367(c.468-375T>C),
150573433(c.468-441C>A),
150573634(c.467+366C>T),
150573983(c.467+17G>C),
150574139(c.391-63A>G),
150574263(c.391-187T>C),
150574310(c.391-234T>A),
150574339(c.391-263C>T),
150574424(c.391-348A>G),
150574609(c.391-533T>C),
150574727(c.391-651G>A),
150574740(c.391-664A>T),
150574744(c.391-668G>T),
150575320(c.390+930T>C),
150575646(c.390+604T>G),
150575745(c.390+505C>G),
150576021(c.390+229C>T),
150577011(c.174-244G>A),
150577823(c.174-1056C>T),
150578014(c.174-1247T>C),
150578449(c.174-1682G>A),
150578483(c.174-1716C>T),
150578815(c.174-2048C>A),
150579385(c.174-2618A>C),
150579473(c.174-2706G>C),
150579508(c.174-2741C>T),
150579554(c.174-2787C>A),
150579771(c.174-3004T>C),
150579947(c.174-3180A>T),
150579948(c.174-3181T>C),
150579954(c.174-3187C>T),
150579957(c.174-3190G>T),
150580007(c.174-3240G>A),
150580142(c.174-3375C>T),
150580196(c.174-3429C>A),
150580261(c.174-3494T>C),
150580275(c.174-3508T>C),
150580276(c.174-3509A>G),
150580322(c.174-3555C>T),
150580351(c.174-3584C>T),
150580357(c.174-3590A>G),
150580543(c.174-3776A>G),
150580634(c.174-3867T>C),
150580812(c.174-4045C>G),
150580833(c.174-4066T>C),
150580858(c.174-4091A>T),
150580866(c.174-4099C>T),
150580946(c.174-4179G>A),
150581199(c.174-4432G>A),
150581282(c.174-4515C>T),
150581357(c.174-4590C>G),
150581473(c.174-4706T>C),
150581731(c.174-4964C>T),
150581744(c.174-4977A>G),
150581745(c.174-4978C>T),
150581795(c.174-5028C>G),
150581807(c.174-5040C>T),
150581810(c.174-5043G>A),
150582021(c.174-5254G>C),
150582060(c.174-5293T>C),
150582072(c.174-5305G>A),
150582177(c.174-5410T>C),
150582276(c.174-5509A>G),
150582652(c.174-5885T>C),
150582788(c.174-6021T>A),
150583090(c.174-6323T>A),
150583583(c.174-6816T>C),
150584525(c.174-7758C>A),
150584651(c.174-7884G>T),
150585319(c.174-8552G>T),
150585913(c.173+8351A>G),
150586065(c.173+8199T>C),
150586125(c.173+8139A>T),
150586426(c.173+7838T>C),
150586442(c.173+7822T>C),
150586535(c.173+7729A>G),
150586606(c.173+7658C>T),
150586622(c.173+7642C>A),
150586630(c.173+7634A>G),
150586684(c.173+7580A>T),
150586781(c.173+7483G>C),
150586805(c.173+7459T>G),
150586819(c.173+7445G>A),
150586827(c.173+7437C>T),
150586852(c.173+7412C>G),
150586870(c.173+7394G>A),
150586921(c.173+7343A>G),
150586995(c.173+7269A>T),
150586996(c.173+7268A>T),
150587053(c.173+7211G>A),
150587186(c.173+7078C>A),
150587187(c.173+7077A>G),
150587207(c.173+7057T>A),
150587303(c.173+6961C>T),
150587339(c.173+6925C>T),
150587346(c.173+6918T>G),
150587438(c.173+6826C>T),
150587451(c.173+6813A>G),
150587639(c.173+6625A>C),
150587642(c.173+6622C>T),
150587674(c.173+6590T>C),
150587778(c.173+6486A>G),
150587787(c.173+6477A>G),
150587820(c.173+6444G>T),
150587956(c.173+6308C>T),
150588257(c.173+6007G>A),
150588729(c.173+5535T>G),
150589035(c.173+5229C>T),
150589056(c.173+5208G>A),
150589425(c.173+4839G>A),
150589585(c.173+4679A>G),
150589713(c.173+4551A>C),
150589934(c.173+4330T>A),
150589957(c.173+4307C>A),
150590728(c.173+3536T>C),
150590773(c.173+3491C>A),
150590870(c.173+3394T>A),
150590879(c.173+3385T>C),
150590914(c.173+3350T>A),
150590987(c.173+3277G>A),
150591064(c.173+3200A>G),
150591167(c.173+3097C>T),
150591328(c.173+2936A>G),
150591330(c.173+2934A>G),
150591391(c.173+2873C>A),
150591393(c.173+2871T>A),
150591433(c.173+2831C>G),
150591515(c.173+2749T>C),
150591518(c.173+2746T>C),
150591814(c.173+2450A>T),
150591848(c.173+2416G>A),
150591862(c.173+2402T>C),
150591927(c.173+2337A>C),
150591945(c.173+2319G>T),
150592015(c.173+2249A>G),
150592049(c.173+2215A>G),
150592077(c.173+2187A>G),
150592102(c.173+2162G>T),
150592133(c.173+2131C>T),
150592208(c.173+2056G>A),
150592490(c.173+1774C>T),
150592659(c.173+1605T>C),
150592887(c.173+1377A>T),
150592888(c.173+1376A>G),
150592889(c.173+1375C>G),
150592901(c.173+1363T>C),
150592916(c.173+1348A>G),
150592971(c.173+1293C>A),
150593040(c.173+1224C>T),
150593116(c.173+1148C>T),
150593482(c.173+782G>A),
150593710(c.173+554A>T),
150593773(c.173+491C>G),
150593774(c.173+490G>T),
150594232(c.173+32T>C),
-1kb
150566707(c.*6036G>A),
150566795(c.*5948T>C),
150566813(c.*5930A>C),
150566828(c.*5915G>A),
150566840(c.*5903A>C),
150566862(c.*5881T>C),
150567160(c.*5583G>T),
150567168(c.*5575A>C),
150567314(c.*5429T>C),
150567474(c.*5269A>G),
150567652(c.*5091C>T),
150567840(c.*4903C>A),
150568043(c.*4700A>G),
150568224(c.*4519C>T),
150568235(c.*4508C>G),
150568452(c.*4291C>A),
150568512(c.*4231T>G),
150568651(c.*4092A>G),
150568665(c.*4078A>G),
150568688(c.*4055G>A),
150568717(c.*4026G>A),
150568849(c.*3894T>C),
150568994(c.*3749A>G),
150569009(c.*3734A>G),
150569049(c.*3694C>A),
150569087(c.*3656C>T),
150569131(c.*3612A>G),
150569214(c.*3529G>A),
150569217(c.*3526T>A),
150569249(c.*3494C>T),
150569334(c.*3409G>A),
150569340(c.*3403C>T),
150569348(c.*3395G>A),
150569415(c.*3328T>A),
150569433(c.*3310T>A),
150569518(c.*3225C>T),
150569573(c.*3170C>T),
150569660(c.*3083G>A),
150569684(c.*3059C>A),
150569747(c.*2996T>C),
150569749(c.*2994T>C),
150569900(c.*2843C>T),
150569917(c.*2826C>A),
150569918(c.*2825A>G),
150569940(c.*2803A>C),
150570267(c.*2476T>A),
150570305(c.*2438A>G),
150570391(c.*2352G>A),
150570464(c.*2279T>C),
150570670(c.*2073A>G),
150570771(c.*1972T>C),
150570819(c.*1924T>C),
150571003(c.*1740T>A),
150571059(c.*1684T>C),
150571076(c.*1667T>C),
150571082(c.*1661A>G),
150571164(c.*1579G>A),
150571251(c.*1492A>G),
150571379(c.*1364T>G),
150571423(c.*1320C>T),
150571426(c.*1317A>G),
150571563(c.*1180G>A),
|
Insertions |
+1kb
5'UTR
CDS
3'UTR
INTRON
150575961 (c.390+288_390+289insTCC),
150580782 (c.174-4016_174-4015insGG),
150582153 (c.174-5387_174-5386insA),
150582260 (c.174-5495_174-5494dupCT),
150582263 (c.174-5497_174-5496insCT),
150582435 (c.174-5669_174-5668insAAACAA),
150583516 (c.174-6752_174-6750dupCAC),
150586477 (c.173+7786_173+7787insATTT),
150587820 (c.173+6443_173+6444insGT),
150589800 (c.173+4461_173+4463dupACA),
-1kb
|
Deletions |
+1kb
5'UTR
CDS
3'UTR
INTRON
150573987 (c.467+12delT),
150574080 (c.391-5delA),
150574084 (c.391-9delA),
150574402 (c.391-331_391-327delATGAT),
150574802 (c.391-729_391-727delAAC),
150575961 (c.390+288delT),
150575972 (c.390+277delT),
150575974 (c.390+275delT),
150577586 (c.174-828_174-820delTTGGGTTTT),
150579385 (c.174-2621_174-2619delGTG),
150580097 (c.174-3331delA),
150581930 (c.174-5171_174-5164delTATCTTTG),
150584798 (c.174-8032delA),
150585081 (c.174-8320_174-8315delCCAGAA),
150585548 (c.173+8714_173+8715delAA),
150591032 (c.173+3228_173+3231delTGAG),
150591298 (c.173+2962_173+2965delACAC),
150592889 (c.173+1373_173+1374delTC),
-1kb
|
coding sequence substitutions |
premature termination by the nucleotide substitution | 0 |
synonymous num | 2 |
non-synonymous num | 0 |
synonymous substitutions |
150572839 (p.Gly207Gly),
150576725 (p.Thr72Thr),
|
non-synonymous substitutions |
|
B6 transcript
(ENSMUST00000016279)
|
MEDSFLESFGRLSLQQRQQQPPPRPPPARGPPPRRHSFRKHLYLLRGLPGSGKTTLARQL
QHDYPRALIFSTDDFFFKEDGTYEFNPNLLEEAHEWNQRRARKAMRNGISPIIIDNTNLH
AWEMKPYAVMALENNYEVIFREPDTRWKFNVQELARRNIHGVPKEKIQRMKERYEHNVTF
HSVLHAEKPSRANRNQGRNSEPSSGSGYWNTYTELPNRRANGLYSNEGYRRGGHHQGY*
|
MSMv4 transcript
|
MEDSFLESFGRLSLQQRQQQPPPRPPPARGPPPRRHSFRKHLYLLRGLPGSGKTTLARQL
QHDYPRALIFSTDDFFFKEDGTYEFNPNLLEEAHEWNQRRARKAMRNGISPIIIDNTNLH
AWEMKPYAVMALENNYEVIFREPDTRWKFNVQELARRNIHGVPKEKIQRMKERYEHNVTF
HSVLHAEKPSRANRNQGRNSEPSSGSGYWNTYTELPNRRANGLYSNEGYRRGGHHQGY*
|
homology | 100.00 (239 / 239) |
|